A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049279



Internal ID19138498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:30837160..30861455hg38UCSC Ensembl
Innerchr13:31411297..31435592hg19UCSC Ensembl
Innerchr13:30309297..30333592hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3824296
hg1924296
hg1824296
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1624n100
Supporting Variantsnssv3523222
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049279
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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